Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

BACKGROUND: We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION: A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. CONCLUSIONS: This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway.

Odontogenic orbital cellulitis associated with cavernous sinus thrombosis and pulmonary embolism: a case report.

BACKGROUND: This case illustrates the importance of prompt assessment and treatment of orbital cellulitis. In fact the ocular signs and symptoms may be associated with systemic complications which should be investigated and identified as soon as possible to avoid a poor prognosis. CASE PRESENTATION: A 46-year-old white woman presented to our emergency room with proptosis, ophthalmoplegia, and conjunctival chemosis of her left eye. An ophthalmologist, having diagnosed orbital cellulitis in her left eye, suspected a cavernous sinus thrombosis. Hematochemical and radiological examinations confirmed the cavernous sinus thrombosis and also showed septic pulmonary embolism. A blood culture indicated Streptococcus constellatus, which is a member of the Peptostreptococcus family, a saprophyte of the oral mucosa that can be pathogenic in immunocompromised persons. The odontogenic origin was then confirmed by dental radiography which showed a maxillary abscess. Her eye signs regressed after antibiotic and anticoagulant therapy. CONCLUSIONS: This complex case shows the importance of a multidisciplinary approach for the management of orbital cellulitis, for the prompt diagnosis and treatment of eye injuries and possible complications, so as to avoid serious and permanent sequelae.

Retinal pigment epithelial marginal retraction after photodynamic therapy for choroidal neovascularization in pathologic myopia.

PURPOSE: To report the incidence of retinal pigment epithelial (RPE) marginal retraction after verteporfin photodynamic therapy (PDT) for subfoveal choroidal neovascularization (CNV) in pathologic myopia (PM). METHODS: Retrospective review of 236 patients treated with PDT for subfoveal CNV due to PM. RESULTS: RPE marginal retraction was found in 3 eyes (1.3%), and a decrease of a mean of five lines of vision was reported to occur 10-15 days after treatment. At the end of followup two eyes lost three lines and one six lines from baseline. CONCLUSIONS: RPE marginal retraction as an early complication of PDT for subfoveal CNV secondary to PM is rare. The low incidence of this adverse event, however, should not preclude recommendations for PDT in myopic eyes that could benefit from this treatment modality.

Observation or surgical excision of bilateral subfoveal choroidal neovascularization in Best disease.

The purpose of this article is to describe a case of bilateral neovascularization complicating Best Disease. A 12-year-old patient with bilateral neovascularization was managed with observation in the right eye and surgical removal in the other eye. Visual acuity, biomicroscopy and fluorangiography were carried out from 1997 to 2005. The right eye did not experience any change in visual acuity from baseline (20/50) while left eye varied from 20/200 to 20/32. Macular exudative-hemorrhagic manifestations resolved bilaterally. Eight years later, VA and retinal findings were unchanged. In this case, although VA was reasonably good in both eyes, it is difficult to assess the prognosis of surgically excised neovascularization vs natural history, also considering that nowadays photodynamic therapy and antiangiogenetic drugs are considered the therapy of choice in subfoveal neovascularization.

Quality of vision: A consensus building initiative for a new ophthalmologic concept.

PURPOSE: Many studies have addressed the quantification of visual acuity, and the conventional method of measuring it has so far demonstrated serious limitations. Vision testing requires new methods that can more precisely express the quality of vision as perceived by the patient. METHODS: This study employed the Delphi method of consensus building. Concepts associated with quality of vision (QoV) were identified by a board of experts and proposed to participating specialists in two subsequent questionnaires. Upon receipt of the completed questionnaires, the replies were classified to determine the building blocks of a consensus. RESULTS: By analyzing the replies to the two questionnaires, the authors determined the key elements of QoV on which a consensus was found among the respondents. CONCLUSIONS: A consensus was reached on the opinion that the quantification of visual acuity by traditional means is inadequate for investigating QoV. Although visual acuity is still a basic element for testing, the experts believe that contrast sensitivity, reading speed, and microperimetry are additional parameters necessary for quantifying QoV. The use of a psychometric questionnaire on visual function could allow a better interpretation of visual impairment.

Fluorescein angiography and indocyanine green angiography for identifying occult choroidal neovascularization in age-related macular degeneration.

PURPOSE: To assess whether fluorescein angiography (FA) alone without indocyanine green angiography (ICGA) can identify and localize occult choroidal neovascularization (CNV) in age-related macular degeneration (ARMD). METHODS: Seventy-nine eyes of 77 consecutive patients with occult CNV were evaluated independently by two skilled physicians at first with FA alone and then with FA combined with ICGA by fundus camera. RESULTS: The agreement between FA and ICGA was 73% and 68% for the two physicians (K=0.585 and 0.512, respectively). The first operator correctly identified 20/27 as plaque CNV; six had different sizes and locations. The second operator identified 25/30, with one mistaken for size and location. For focal CNV the first operator identified 34/39, and the second one 23/35. CONCLUSIONS: Comparing the FA results with ICGA, CNV was correctly identified in about 60% of cases. Therefore, ICGA should be considered an indispensable diagnostic test to identify the presence, the type, and the location of occult CNV.

Fluorescein angiography and indocyanine green angiography for identifying occult CNV in ARMD.

PURPOSE: To assess whether fluorescein angiography (FA) alone without indocyanine green angiography (ICGA) can identify and localize occult choroidal neovascularization (CNV) in age-related macular degeneration (ARMD). METHODS: Seventy-nine eyes of 77 consecutive patients with occult CNV were evaluated independently by two skilled physicians at first with FA alone and then with FA combined with ICGA by fundus camera. RESULTS: The agreement between FA and ICGA was 73% and 68% for the two physicians (K=0.585 and 0.512, respectively). The first operator correctly identified 20/27 as plaque C N V; six had different sizes and locations. The second operator identified 25/30, with one mistaken for size and location. For focal CNV the first operator identified 34/39, and the second one 23/35. CONCLUSIONS: Comparing the FA results with ICGA, CNV was correctly identified in about 60% of cases. Therefore, ICGA should be considered an indispensable diagnostic test to identify the presence, the type, and the location of occult CNV.

Chorioretinal involvement in primary systemic nonfamilial amyloidosis.

PURPOSE: To report a case of primary systemic nonfamilial amyloidosis studied by fluorescein angiography and indocyanine green angiography. METHODS: Case report. A 59-year-old woman with primary systemic nonfamilial amyloidosis presented bilateral diffuse deep hemorrhages and pigmentary mottling at the posterior pole. RESULTS: On fluorescein angiography bilateral diffuse areas of hypofluorescence were present. Indocyanine green angiography showed large hypofluorescent areas with hypofluorescent lines in the midperiphery and hyperfluorescent streaks in the peripapillary area. CONCLUSIONS: In this case of primary systemic nonfamilial amyloidosis, diffuse bilateral chorioretinal abnormalities included hemorrhages and pigmentary mottling at the posterior pole, with hypofluorescent areas on fluorescein angiography and indocyanine green angiography, as well as hypofluorescent lines in the midperiphery.

Real-time quantification of the proliferative state in astrocytomas.

OBJECTIVE: To evaluate proliferative activity in a set of gliomas and to compare the quantitative data obtained by a real-time processor with the labelling index (LI) and mitotic index (MI). STUDY DESIGN: Ki-67 immunostaining was performed on paraffin-embedded specimens from 42 cases of glioblastomas, 17 cases of anaplastic astrocytomas and 14 cases of low grade astrocytomas. Nuclear positivity was calculated as LI and by a real-time image processor for quantitative evaluation. MI was also calculated at 10 high-power fields. The data obtained from glioblastomas were compared with those from anaplastic and low grade astrocytomas. To all the data was applied the Pearson test to verify the correlation between counting and quantitative values and between proliferative markers and survival. RESULTS: A positive trend from low grade astrocytomas to glioblastomas was found for Ki-67 (LI and quantitative values) and MI, with highly significant differences between the three grades of gliomas considered. A good correlation between LI and quantitative values of Ki-67 was found. Very little relationship resulted between survival and Ki-67 LI. No relationship was found between survival and quantitative values of Ki-67. CONCLUSION: Ki-67 allowed effective separation of astrocytic tumors with different grades of malignancy. Quantitative evaluation of color information by means of a real-time processor proved to be a useful, objective and fast way to obtain readings, useful for grading purposes but not for prognostic evaluation.

Indocyanine green angiography of well-defined plaque choroidal neovascularization in age-related macular degeneration.

OBJECTIVE: To determine the natural course of well-defined plaque choroidal neovascularization (CNV) using indocyanine green angiography. METHODS: Two ophthalmologists, experts in macular diseases and indocyanine green angiography, examined 40 eyes with exudative age-related macular degeneration and a well-defined plaque CNV using complete ophthalmoscopic evaluation, fluorescein angiography, and indocyanine green angiography. The increase in the size of the plaques was analyzed using multivariate analysis, in relation to the worsening of visual acuity, with adjustment for age, sex, and length of follow-up. RESULTS: Mean follow-up was 13.5 months (median, 11 months). Initial and final mean visual acuity were 20/46 (median, 20/50) and 20/65 (median, 20/100), respectively. The mean initial size of the plaque was 6.62 mm2 (median, 6.20 mm2), and the mean final size was 10.40 mm2 (median, 9.76 mm2). The enlargement was statistically significant (P<.001). CONCLUSIONS: We found that plaque CNV tends to become larger with time, the enlargement reaching about 40% in 1 year of follow-up. The resulting loss of visual acuity, however, is not significant, and is slightly correlated with the extension of the lesion; it also does not appear to be directly related to sex.

ICGA-guided laser photocoagulation of occult choroidal neovascularization in age-related macular degeneration. Indocyanine green angiography.

PURPOSE: To evaluate the efficacy of indocyanine green angiography (ICGA)-guided laser photocoagulation in eyes with fluorescein angiographic evidence of occult choroidal neovascularization (O-CNV) in patients with age-related macular degeneration (ARMD) with or without pigment epithelium detachment (PED). METHODS: Eighty eyes of 79 consecutive patients with O-CNV underwent laser treatment of a clearly outlined extrafoveal ICGA hyperfluorescent area, presumed to be focal CNV. Four types of presumed CNV were treated: Group 1 (20 eyes), CNV beneath the PED; Group 2 (23 eyes), CNV at the margin of the PED; Group 3 (10 eyes), parapapillary CNV and PED; and Group 4 (27 eyes), macular CNV without PED. Median follow-up was 17.5 months (range, 6-24 months). RESULTS: After 1 year, 15% of the eyes in Group 1, 30% in Group 2, 100% in Group 3, and 52% in Group 4 had obliteration of the presumed CNV. After 1 year, visual acuity was stable or improved in 18% of Group 1, in 37.5% of Group 2, in 100% of Group 3, and in 73% of Group 4. The remaining eyes worsened. CONCLUSIONS: Indocyanine green angiography-guided laser treatment may improve or stabilize visual acuity in some eyes with O-CNV. The best outcome is seen in eyes with presumed parapapillary CNV, probably made up of choroidal telangiectases in many cases. The type and location of the presumed CNV influence prognosis after laser treatment considerably. A randomized, controlled clinical study appears necessary to investigate the efficacy of ICGA-guided laser treatment in different types of presumed CNV. The inclusion criteria for further trials need to be defined with precision, as data from patients with different choroidal vascular abnormalities have been pooled until now.

Congenital malformation of the iris's major arterial circle simulating an angioma.

A case of anatomical anomaly of the iris's major arterial circle simulating an angioma was discovered in the right eye of a 64-year-old asymptomatic woman during routine ocular examination. We report its clinical and gonioangioiridographic findings.

Indocyanine green angiography in enlarged blind spot syndrome.

PURPOSE: To report the indocyanine green angiography findings in a case of acute idiopathic blind spot enlargement syndrome. METHOD: The patient underwent ophthalmologic examination with fluorescein angiography and indocyanine green angiography. RESULTS: A monocular enlarged blind spot was found on automated perimetry; fluorescein angiography showed a hypofluorescent peripapillary atrophic area and indocyanine green angiography highlighted diffuse, small hypofluorescent spots scattered throughout the posterior pole. Visual field defects and indocyanine green angiography abnormalities resolved over 4 weeks. CONCLUSION: Indocyanine green angiography in acute idiopathic blind spot enlargement syndrome showed many lesions not visible with fluorescein angiography, indicating a choroidal involvement reaching not only the peripapillary area but the entire posterior pole.

Indocyanine green angiography in age-related macular degeneration with occult neovascularization.

This study has been conducted to assess the sensitivity of indocyanine green angiography (ICGA) in detecting choroidal neovascularization (CNV) in patients with age-related macular degeneration (ARMD) with occult CNV at fluorescein angiography (FA) and to establish their eligibility for laser photocoagulation. Three hundred eighty-three eyes of 355 consecutive patients with occult CNV at FA were studied by ICGA; occult CNV with or without pigment epithelial detachment (PED) were detected as well. Eligibility for laser treatment was established on the basis of the ICGA-guided CNV extension and localization. Out of 157 eyes (41%) with occult CNV and PED, 74 (47.1%) showed focal ICGA CNV, 35 eyes (22.3%) had plaque CNV. Thirty-five eyes with PED (22.3%) appeared serous without CNV, and in 13 eyes (8.3%) no CNV was detectable because of large hemorrhages. Out of the 226 eyes (59%) presenting occult CNV without PED, 94 eyes (41.6%) had plaque CNV, and 58 (25.7%) had focal CNV. In 74 eyes (32.7%), there was no detectable CNV or only an ill-defined ICGA appearance. ARMD with PED is closely associated with focal CNV, while plaque CNV is largely found in exudative ARMD without PED (p < 0.001). Considering all the cases examined by ICGA, CNV was evident in 261 eyes (68%) occult at FA. Extrafoveal CNV laser treatment was recommended for 103 eyes (27%). Our results suggest that ICGA may be useful in the diagnosis and management of ARMD with occult CNV at FA increasing the number of patients eligible for laser treatment.

Indocyanine green angiography in angioid streaks.

PURPOSE: To define the indocyanine green angiographic aspects of angioid streaks, peau d'orange and choroidal new vessels. METHODS: Fifty-seven consecutive patients (112 eyes) with angioid streaks were evaluated by fluorescein angiography and indocyanine green angiography. RESULTS: Indocyanine green angiography showed angioid streaks in all eyes. We identified three different indocyanine green patterns of streaks (four groups): fluorescent (63%), hypofluorescent (8%), 'track-like' (19%) and mixed (10%). Angioid streaks were visualized better by indocyanine green angiography and red-free retinography than fluorescein angiography. Peau d'orange was seen better and found to be more widespread by indocyanine green angiography. Fluorescein angiography visualized choroidal neovascularization better, except for occult forms. CONCLUSIONS: Our findings show that angioid streaks have different indocyanine green angiography patterns. Considering that the hypofluorescent pattern was significantly observed in younger patients, indocyanine green angiography aspects might be correlated with different stages of the disease.

[Fetal uropathies: anatomo-pathologic background]. / Uropatie in età fetale: inquadramento anatomo-patologico.

The kidney malformations are complex anatomo-clinical entities that can be described with different classification approaches, based on morphological or etiopathogenetic criteria. The most serious fetal uropathies can be associated with the oligohydramnios sequence, due to insufficient urine escretion, related, for example to bilateral renal agenesis. A second malformation sequence can also be present, the so-called prune belly syndrome, in which an early urethral obstruction can produce abnormal bladder distension and finally renal dysplasia and globous dilation of the abdomen. The anatomo-pathological experience of the last ten years in the Institute of Pathological Anatomy of the University of Bari is based upon 154 cases of congenital uropathies in second trimester fetuses. Almost 80% of these cases presented also other associated anomalies, both chromosomal and non chromosomal syndromic or in casual combination. The possible echographic recognition of these pathologies, together with genetic and anatomopathological studies allow to categorize the fetal uropathies in two groups: the first characterized by an early or late obstruction of the urinary tract, in "sensu strictu" the true obstructive uropathies, and the second, formed by different morphologies all genetically determined.

Laser photocoagulation of choroidal neovascularization in angioid streaks.

PURPOSE: To determine if laser photocoagulation of macular choroidal neovascularization in angioid streaks may be effective in preventing severe loss of vision. METHODS: Sixty-six consecutive eyes of 52 patients with extrafoveal, well-defined choroidal neovascularization secondary to angioid streaks who underwent direct laser photocoagulation were followed for 3-108 months (mean, 34.5 months; median, 20 months). RESULTS: Pretreatment mean visual acuity was 20/40 (range, 20/200-20/20), postlaser outcome was a visual acuity of 20/50 at 3 months, 20/50 at 6 months, 20/80 at 1 year, 20/80 at 2 years, 20/100 at 3 years, 20/125 at 4 years, 20/125 at 5 years, 20/100 at 6 years, and 20/80 at 7 years. During the first year after treatment there was a significant decrease in visual acuity (P < 0.01), but no significant change thereafter. Choroidal neovascularization recurred one or more times in 77% of the eyes, but by the final examination choroidal neovascularization had been eliminated completely in 31 eyes (47%). Fellow eyes with naturally progressed choroidal neovascularization were considered control eyes. Final visual acuity in treated eyes was definitely better than that in untreated eyes (P < 0.01). CONCLUSIONS: This is the largest series of eyes treated by laser photocoagulation for angioid streaks and choroidal neovascularization ever reported. Laser photocoagulation of choroidal neovascularization in angioid streaks may end the choroidal neovascularization and help stabilize visual acuity or slow down visual loss. Considering the very high frequency of recurrences (77% of the eyes studied), an intense clinical and fluorangiographic follow-up period is strongly recommended, mainly for the first 3 months after treatment.